Canonical Allele Identifier: CA1977889505

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692742_62692745delinsGAGA , CM000673.2:g.62692742_62692745delinsGAGA	GRCh38
NC_000011.9:g.62460214_62460217delinsGAGA , CM000673.1:g.62460214_62460217delinsGAGA	GRCh37
NC_000011.8:g.62216790_62216793delinsGAGA	NCBI36
NG_008461.1:g.21830_21833delinsTCTC
NG_033077.1:g.2155_2158delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.875_878delinsTCTC (BSCL2)
ENST00000449636.6:c.191_194delinsTCTC (BSCL2)	ENSP00000405265.2:p.Phe64=
ENST00000524862.6:c.683_686delinsTCTC (BSCL2)	ENSP00000433888.2:p.Phe228=
ENST00000682003.1:n.809-272_809-269delinsTCTC (BSCL2)
ENST00000682223.1:c.683_686delinsTCTC (BSCL2)	ENSP00000508140.1:p.Phe228=
ENST00000682262.1:c.631-1324_631-1321delinsTCTC (BSCL2)	ENSP00000507103.1:n.631-1324_631-1321delinsTCTC
ENST00000682555.1:c.631-30_631-27delinsTCTC (BSCL2)	ENSP00000507814.1:n.631-30_631-27delinsTCTC
ENST00000682644.1:n.1075_1078delinsTCTC (BSCL2)
ENST00000682794.1:n.993_996delinsTCTC (BSCL2)
ENST00000683025.1:c.*330_*333delinsTCTC (BSCL2)	ENSP00000507028.1:n.*330_*333delinsTCTC
ENST00000683296.1:c.683_686delinsTCTC (BSCL2)	ENSP00000507725.1:p.Phe228=
ENST00000683368.1:n.874_877delinsTCTC (BSCL2)
ENST00000683494.1:n.1075_1078delinsTCTC (BSCL2)
ENST00000683846.1:n.1023_1026delinsTCTC (BSCL2)
ENST00000683892.1:n.1185_1188delinsTCTC (BSCL2)
ENST00000684067.1:c.683_686delinsTCTC (BSCL2)	ENSP00000506799.1:p.Phe228=
ENST00000684115.1:n.1075_1078delinsTCTC (BSCL2)
ENST00000684258.1:n.1111_1114delinsTCTC (BSCL2)
ENST00000684285.1:c.*190_*193delinsTCTC (BSCL2)	ENSP00000507669.1:n.*190_*193delinsTCTC
ENST00000684475.1:c.631-272_631-269delinsTCTC (BSCL2)	ENSP00000507429.1:n.631-272_631-269delinsTCTC
ENST00000684609.1:n.1075_1078delinsTCTC (BSCL2)
ENST00000684720.1:n.1075_1078delinsTCTC (BSCL2)
ENST00000360796.10:c.683_686delinsTCTC (BSCL2) MANE Select	ENSP00000354032.5:p.Phe228=
ENST00000679883.1:c.683_686delinsTCTC (BSCL2)	ENSP00000505838.1:p.Phe228=
ENST00000278893.11:c.491_494delinsTCTC (BSCL2)	ENSP00000278893.7:p.Phe164=
ENST00000301781.10:c.635-7_635-4delinsTCTC (BSCL2)	ENSP00000301781.5:n.635-7_635-4delinsTCTC
ENST00000360796.9:c.683_686delinsTCTC (BSCL2)	ENSP00000354032.5:p.Phe228=
ENST00000403098.6:c.5_8delinsTCTC (BSCL2)	ENSP00000384258.2:p.Phe2=
ENST00000403550.5:c.491_494delinsTCTC (BSCL2)	ENSP00000385561.1:p.Phe164=
ENST00000403734.2:c.*734_*737delinsTCTC (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*734_*737delinsTCTC
ENST00000405837.5:c.683_686delinsTCTC (BSCL2)	ENSP00000385332.1:p.Phe228=
ENST00000407022.7:c.491_494delinsTCTC (BSCL2)	ENSP00000384080.3:p.Phe164=
ENST00000412351.1:n.281_284delinsTCTC (BSCL2)
ENST00000421906.5:c.491_494delinsTCTC (BSCL2)	ENSP00000413209.1:p.Phe164=
ENST00000448568.6:c.491_494delinsTCTC (BSCL2)	ENSP00000413340.2:p.Phe164=
ENST00000468505.5:n.53_56delinsTCTC (BSCL2)
ENST00000526426.1:n.198_201delinsTCTC (BSCL2)
ENST00000531524.5:c.284_287delinsTCTC (BSCL2)	ENSP00000436026.1:p.Phe95=
ENST00000532115.5:n.145-272_145-269delinsTCTC (BSCL2)
NM_001122955.3:c.683_686delinsTCTC (BSCL2)	NP_001116427.1:p.Phe228=
NM_001130702.2:c.491_494delinsTCTC (BSCL2)	NP_001124174.2:p.Phe164=
NM_032667.6:c.491_494delinsTCTC (BSCL2)	NP_116056.3:p.Phe164=
NR_037946.1:n.3203_3206delinsTCTC (HNRNPUL2-BSCL2)
NR_037948.1:n.1285_1288delinsTCTC (BSCL2)
NR_037949.1:n.1285_1288delinsTCTC (BSCL2)
NM_001122955.4:c.683_686delinsTCTC (BSCL2) MANE Select	NP_001116427.1:p.Phe228=
NM_001386027.1:c.683_686delinsTCTC (BSCL2)	NP_001372956.1:p.Phe228=
NM_001386028.1:c.683_686delinsTCTC (BSCL2)	NP_001372957.1:p.Phe228=